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SpringerLink电子期刊(2)
Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:小于0.01 秒
在所有数据库中总计命中:
10
条
1.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
作者:
Kristi Bentler
a
;
Shaohui Zhai
b
;
Sara A. Elsbecker
c
;
Georgianne L. Arnold
d
;
Barbara K. Burton
e
;
Jerry Vockley
d
;
Cynthia A. Cameron
b
;
Sally J. Hiner
b
;
Mathew J. Edick
b
;
Susan A. Berry
c
;
1
;
2
;
berry002@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
On behalf of the Inborn Errors of Metabolism CollaborativeJanet Thomas
g
;
Melinda Dodge
g
;
Rani Singh
h
;
Sangeetha Lakshman
h
;
Katie Coakley
h
;
Adrya Stembridge
h
;
Alvaro Serrano Russi
i
;
Emily Phillips
i
;
Barbara Burton
j
;
Clare Edano
j
;
Sheela Shrestha
j
;
George
Hoganson
;
Lauren Dwyer
k
;
Bryan Hainline
l
;
Susan Romie
l
;
Sarah Hainline
l
;
Alexander Asamoah
m
;
Kara Goodin
m
;
Cecilia Rajakaruna
m
;
Kelly Jackson
m
;
Ada Hamosh
n
;
Hilary Vernon
n
;
Nancy Smith
n
;
Ayesha Ahmad
o
;
Sue Lipinski
o
;
Gerald Feldman
p
;
Susan Berry
q
;
Sara Elsbecker
q
;
Kristi Bentler
r
;
Esperanza Font-Montgomery
s
;
Dawn Peck
s
;
Loren D.M. Pena
t
;
Dwight D. Koeberl
t
;
Yong-hui Jiang
t
;
Priya S. Kishnani
t
;
William Rizzo
u
;
Machelle Dawson
u
;
Nancy Ambrose
u
;
Paul Levy
v
;
David Kronn
w
;
Chin-to Fong
x
;
Kristin D&rsquo
;
Aco
x
;
Theresa Hart
x
;
Richard Erbe
y
;
Melissa Samons
y
;
Nancy Leslie
z
;
Racheal Powers
z
;
Dennis Bartholomew
aa
;
Melanie Goff
aa
;
Sandy vanCalcar
ab
;
Joyanna Hansen
ab
;
Georgianne Arnold
ac
;
Jerry Vockley
ac
;
Cate Walsh-Vockley
ad
;
William Rhead
ad
;
David Dimmock
ad
;
Paula Engelking
ad
;
Cassie Bird
ad
;
Ashley Swan
ad
;
Jessica Scott Schwoerer
ae
;
Sonja Henry
ae
;
TaraChandra Narumanchi
af
;
Marybeth Hummel
af
;
Jennie Wilkins
af
;
Laura Davis-Keppen
ag
;
Quinn Stein
ag
;
Rebecca Loman
ag
;
Cynthia Cameron
ah
;
Mathew J. Edick
ah
;
Sally J. Hiner
ah
;
Kaitlin Justice
ah
;
Shaohui Zhai
ah
关键词:
Medium-chain acyl-coenzyme A dehydrogenase deficiency
;
MCAD
;
Octanoylcarnitine
;
ACADM
;
Newborn screening
;
Inborn error of metabolism
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia
作者:
Joaquí
;
n Ferná
;
ndez-Irigoyen
;
Enrique Santamarí
a ;
Yin-Hsiu Chien
;
Wuh-Liang Hwu
;
Stanley H. Korman
;
Hanna Faghfoury
;
Andreas Schulze
;
George
E.
Hoganson
;
Sally P. Stabler
;
Robert H. Allen
关键词:
Methionine adenosyltransferase
;
Hypermethioninemia
;
S
-adenosylmethionine
;
Tripolyphosphate
刊名:Molecular Genetics and Metabolism
出版年:2010
3.
Zonisamide Ameliorates Symptoms of Secondary Paroxysmal Dystonia
作者:
Robert T. Egel
;
George
E.
Hoganson
;
M. Ammar Katerji
;
Martin J. Borenstein
刊名:Pediatric Neurology
出版年:2010
4.
79. Pseudo-deficiency allele of the N-acetylgalactosamine-4-sulfatase gene identified in a family with Maroteaux–Lamy syndrome (mucopolysaccharidosis type VI)
作者:
Sherri S
;
berg
;
Minerva Deanching
;
George
Hoganson
;
David Wenger
;
Chester Whitley
关键词:
Pyridox(am)ine 5′
;
-phosphate oxidase
;
PNPO
;
Pyridoxal 5′
;
-phosphate
;
PLP
;
Neonatal convulsions
;
Burst-suppression
;
Vanillactate
;
Hyperglycinemia
刊名:Molecular Genetics and Metabolism
出版年:2008
5.
Infantile systemic hyalinosis
作者:
Helen T. Shin
;
Amy Paller
;
George
Hoganson
;
Judith P. Willner
;
Mary Wu Chang
;
Seth J. Orlow
刊名:Journal of the American Academy of Dermatology
出版年:2004
6.
O2-01-01 Early life socioeconomic level and incidence of Alzheimer's disease
作者:
Robert S. Wilson
;
Paul A. Scherr
;
George
Hoganson
;
Julia L. Bienias
;
Denis A. Evans
;
David A. Bennett
刊名:Neurobiology of Aging
出版年:2004
7.
Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane
作者:
Souri
;
Masayoshi
;
Aoyama
;
Toshifumi
;
Hoganson
;
George
;
Hashimoto
;
Takashi
关键词:
Very-long-chain acyl-coenzyme A dehydrogenase
;
Mitochondrial import
;
Dimer assembly
;
Mitochondrial inner membrane
;
VLCAD
;
very-long-chain acyl-CoA dehydrogenase
;
hsp60
;
heat shock protein 60
刊名:FEBS Letters
出版年:1998
8.
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome
,
,
,
作者:
G.S. Tint
;
Gerald Salen
;
Ashok K. Batta
;
Sarah Shefer
;
Mira Irons
;
Ellen Roy Elias
;
Dianne N. Abuelo
;
Virginia P. Johnson
;
Marie Lambert
;
Richard Lutz
;
Carolyn Schanen
;
Colleen A. Morris
;
George
Hoganson
;
Rhiannon Hughes-Benzie
刊名:The Journal of Pediatrics
出版年:1995
1
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